Variant report

Variant	rs2241283
Chromosome Location	chr12:4544887-4544888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4495347..4499076-chr12:4544187..4545933,3	K562	blood:
2	chr12:4536252..4538511-chr12:4543376..4545742,2	K562	blood:

Variant related genes	Relation type
ENSG00000111241	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1019398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849064	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849069	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11063150	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11608707	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11610929	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612742	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612756	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615557	0.90[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12367170	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12368351	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244388	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970805	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2970806	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766242	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766243	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766244	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766246	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766247	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766248	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61909562	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7131828	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295812	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7299949	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7316012	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888465	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888466	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888468	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4533400-4549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4540600-4545400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:4542000-4545400	Enhancers	Fetal Thymus	thymus
4	chr12:4542600-4545000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:4542600-4545400	Enhancers	Dnd41	blood
6	chr12:4542600-4550400	Weak transcription	Right Atrium	heart
7	chr12:4542800-4549000	Weak transcription	Left Ventricle	heart
8	chr12:4543000-4548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:4543200-4545000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:4543200-4545000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:4543200-4546000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:4543200-4548000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:4543200-4549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:4543400-4545000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:4543400-4545200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:4543600-4545600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:4543800-4548200	Weak transcription	HSMMtube	muscle
18	chr12:4544000-4546400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:4544200-4545000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr12:4544200-4545200	Genic enhancers	Fetal Muscle Leg	muscle
21	chr12:4544400-4549000	Weak transcription	Psoas Muscle	Psoas
22	chr12:4544400-4549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:4544600-4548400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:4544600-4548600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:4544600-4549000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:4544800-4548200	Weak transcription	Primary B cells from cord blood	blood

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